ClinVar Miner

Variants from Institute of Human Genetics,Klinikum rechts der Isar with conflicting interpretations

Location: Germany — Primary collection method: clinical testing
Minimum review status of the submission from Institute of Human Genetics,Klinikum rechts der Isar: Collection method of the submission from Institute of Human Genetics,Klinikum rechts der Isar:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
295 110 12 76 0 3 27 101

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Institute of Human Genetics,Klinikum rechts der Isar pathogenic likely pathogenic uncertain significance likely benign drug response risk factor
pathogenic 11 64 16 2 2 2
likely pathogenic 12 1 11 1 0 0

Submitter to submitter summary #

Total submitters: 45
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
GeneDx 0 69 0 20 0 0 2 22
Invitae 0 29 0 6 0 0 10 16
Ambry Genetics 0 22 0 11 0 0 1 12
GeneReviews 0 20 11 1 0 0 0 12
OMIM 0 112 0 5 0 2 0 7
Counsyl 0 13 0 5 0 0 2 7
Illumina Clinical Services Laboratory,Illumina 0 5 0 3 0 0 4 7
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 27 0 2 0 0 4 6
Genetic Services Laboratory, University of Chicago 0 9 0 2 0 0 3 5
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 3 0 0 2 5
Fulgent Genetics 0 17 0 5 0 0 0 5
Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine 0 4 0 3 0 0 2 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 9 0 3 0 0 1 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 11 0 2 0 0 1 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 5 0 2 0 0 1 3
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 0 0 3 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 2 0 3 0 0 0 3
Baylor Miraca Genetics Laboratories, 0 8 0 1 0 0 1 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 3 0 2 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 16 0 1 0 0 1 2
PharmGKB 0 0 0 0 0 2 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 0 0 0 2 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 6 0 2 0 0 1 2
Athena Diagnostics Inc 0 10 0 0 0 0 1 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 0 1
Blueprint Genetics, 0 2 0 1 0 0 0 1
RettBASE 0 1 0 0 0 0 1 1
Center for Genetic Medicine Research,Children's National Medical Center 0 0 0 0 0 0 1 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 1 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 2 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 0 1 0 1 0 0 0 1
Database of Curated Mutations (DoCM) 0 0 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases,University of Cambridge 0 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 0 0 0 1 1
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 0 0 1 0 0 0 1
Department of Traditional Chinese Medicine,Fujian Provincial Hospital 0 0 0 1 0 0 0 1
Pediatric Genomics Discovery Program,Yale University 0 0 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 101
Download table as spreadsheet
HGVS dbSNP
Multiple alleles
NM_000180.3(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000238.3(KCNH2):c.2843G>A (p.Arg948His) rs199473011
NM_000255.3(MMUT):c.1126_1127delGC (p.Ala376Serfs) rs1554159950
NM_000257.3(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) rs397516248
NM_000391.3(TPP1):c.509-1G>C rs56144125
NM_000444.4(PHEX):c.1366T>C (p.Trp456Arg) rs1085308012
NM_000444.5(PHEX):c.1586+3_1586+6delGAGT rs886042234
NM_000444.5(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000466.2:c.1743_1796del rs1554372756
NM_000475.4(NR0B1):c.1141C>T (p.Leu381Phe) rs386134263
NM_000487.5(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.5(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000500.7(CYP21A2):c.293-13C>G rs6467
NM_000500.7(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000540.2(RYR1):c.6502G>A (p.Val2168Met) rs118192176
NM_000540.2(RYR1):c.7063C>T (p.Arg2355Trp) rs193922803
NM_001032393.2(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_001083614.1(EARS2):c.320G>A (p.Arg107His) rs1021330566
NM_001083614.1(EARS2):c.328G>A (p.Gly110Ser) rs201842633
NM_001083962.1(TCF4):c.1739G>A (p.Arg580Gln) rs121909121
NM_001110792.1(MECP2):c.1A>G (p.Met1Val) rs587783132
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001112741.1(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001151.3(SLC25A4):c.368C>A (p.Ala123Asp) rs121912683
NM_001177317.1(SLC34A3):c.1561dup (p.Leu521Profs) rs765816079
NM_001177317.1(SLC34A3):c.575C>T (p.Ser192Leu) rs199690076
NM_001271208.2(NEB):c.9619-2A>G rs375145370
NM_001360.2(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.2(DHCR7):c.470T>C (p.Leu157Pro) rs753960624
NM_001467.5(SLC37A4):c.1042_1043delCT (p.Leu348Valfs) rs80356491
NM_001791.3(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_002238.3(KCNH1):c.1405G>A (p.Gly469Arg) rs730882175
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002693.2(POLG):c.911T>G (p.Leu304Arg) rs121918044
NM_002730.3(PRKACA):c.617T>G (p.Leu206Arg) rs386352352
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_003073.4(SMARCB1):c.1091_1093delAGA (p.Lys364del) rs875989800
NM_003159.2(CDKL5):c.554+1G>A rs1555950083
NM_003560.3(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244
NM_004092.3(ECHS1):c.476A>G (p.Gln159Arg) rs375032130
NM_004092.3(ECHS1):c.518C>T (p.Ala173Val) rs150321966
NM_004092.3(ECHS1):c.817A>G (p.Lys273Glu) rs565090080
NM_004333.5(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.5(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004341.3(CAD):c.98T>G (p.Met33Arg) rs751610198
NM_004341.4(CAD):c.1843-3C>T rs1057519262
NM_004366.4(CLCN2):c.71G>A (p.Gly24Asp) rs1085307938
NM_004453.3(ETFDH):c.1130T>C (p.Leu377Pro) rs387907170
NM_004523.3(KIF11):c.2922G>A (p.Pro974=) rs1554863201
NM_004646.3(NPHS1):c.515_517delCCA (p.Thr172del) rs386833947
NM_004870.3(MPDU1):c.218G>A (p.Gly73Glu) rs104894586
NM_006245.3(PPP2R5D):c.592G>A (p.Glu198Lys) rs863225082
NM_006567.4(FARS2):c.1082C>T (p.Pro361Leu) rs751459058
NM_006912.5(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_012123.3(MTO1):c.1450C>T (p.Arg484Trp) rs748152539
NM_012160.4(FBXL4):c.1703G>C (p.Gly568Ala) rs398123060
NM_012160.4(FBXL4):c.1772A>C (p.Asp591Ala) rs747618415
NM_014225.5(PPP2R1A):c.544C>T (p.Arg182Trp) rs786205227
NM_014233.3(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014363.5(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920
NM_014727.2(KMT2B):c.1633C>T (p.Arg545Ter) rs1057519279
NM_014946.3(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_016035.4(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016035.4(COQ4):c.469C>A (p.Gln157Lys) rs1045118320
NM_016035.4(COQ4):c.718C>T (p.Arg240Cys) rs143441644
NM_017547.3(FOXRED1):c.406C>T (p.Arg136Trp) rs373075574
NM_017613.3(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017780.3(CHD7):c.7285G>T (p.Glu2429Ter) rs773047607
NM_018127.6(ELAC2):c.2342G>A (p.Arg781His) rs119484086
NM_020638.2(FGF23):c.211A>G (p.Ser71Gly) rs104894342
NM_020638.2(FGF23):c.535C>T (p.Arg179Trp) rs28937882
NM_020745.3(AARS2):c.1534G>C (p.Asp512His) rs146512155
NM_020745.3(AARS2):c.1774C>T (p.Arg592Trp) rs138119149
NM_020745.3(AARS2):c.985C>T (p.Arg329Cys) rs200187887
NM_020964.2(EPG5):c.7447C>T (p.Arg2483Ter) rs863225064
NM_021007.2(SCN2A):c.2687C>T (p.Ala896Val) rs1057519526
NM_021222.2(PRUNE1):c.316G>A (p.Asp106Asn) rs773618224
NM_021629.3(GNB4):c.229G>A (p.Gly77Arg) rs1553851490
NM_021830.4(TWNK):c.1196A>G (p.Asn399Ser) rs863223921
NM_021830.4(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540
NM_021942.5(TRAPPC11):c.1287+5G>A rs397509418
NM_032861.3(SERAC1):c.91+6T>C rs1554265452
NM_080647.1(TBX1):c.385G>A (p.Glu129Lys) rs1445910672
NM_080916.2(DGUOK):c.155C>T (p.Ser52Phe) rs1204316787
NM_130466.3(UBE3B):c.2990G>C (p.Arg997Pro) rs539407162
NM_133645.2(MTO1):c.1505G>A (p.Arg502His) rs201544686
NM_138694.3(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255
NM_145207.2(SPATA5):c.983_985delCAA (p.Thr330del) rs796052243
NM_152296.4(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152618.2(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152778.2(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_153717.2(EVC):c.2894+3A>G rs1424976594
NM_153717.2(EVC):c.919T>C (p.Ser307Pro) rs121908426
NM_176787.4(PIGN):c.996T>G (p.Ile332Met) rs1060499763
NM_181789.3(GLDN):c.1305G>A (p.Trp435Ter) rs775011495
NM_194279.3(ISCA2):c.229G>A (p.Gly77Ser) rs730882246
NM_198578.3(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584

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